Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype

Abstract

Hereditary cancer predisposition accounts for more than 10% of all cancers in pediatric age group and this is increasingly recognized as an important entity because of modern sequencing techniques. We report a rare association of two concurrent cancer predisposition syndromes, BRCA2 and PMS2, in a young child who presented with concurrent malignancies including Wilms tumor, myelodysplastic syndrome and an indeterminate brain lesion who succumbed to his disease. Multiple synchronous malignancies present difficult clinical and psycho-social challenges which need to be carefully addressed in the setting of a multi-disciplinary team approach.

Keywords:

• BRCA2
• familial cancers
• Fanconi Anemia
• PMS2
• synchronous malignancies

Acknowledgements

We acknowledge the contributions of our clinical genetics team for looking after this patient and his family.

Statements and declarations

The authors have no conflicts of interest or funding to disclose.

Funding

The author(s) reported there is no funding associated with the work featured in this article.

Date availability statement

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.